UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 18 | g.13884770T>A | CA401994096 | MC2R | c.749A>T (p.Tyr250Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884770T>C | CA401994098 | MC2R | c.749A>G (p.Tyr250Cys) | |
| 18 | g.13884770T>G | CA401994100 | MC2R | c.749A>C (p.Tyr250Ser) | |
| 18 | g.13884770T= | CA2285919264 | MC2R | c.749A= (p.Tyr250=) | |
| 18 | g.13884771A= | CA2285919265 | MC2R | c.748T= (p.Tyr250=) | |
| 18 | g.13884771A>C | CA401994103 | MC2R | c.748T>G (p.Tyr250Asp) | |
| 18 | g.13884771A>G | CA401994104 | MC2R | c.748T>C (p.Tyr250His) | dbSNP |
| 18 | g.13884771A>T | CA401994106 | MC2R | c.748T>A (p.Tyr250Asn) | |
| 18 | g.13884772G>A | CA503248041 | MC2R | c.747C>T (p.Pro249=) | |
| 18 | g.13884772G>C | CA503248040 | MC2R | c.747C>G (p.Pro249=) | |
| 18 | g.13884772G>T | CA503248039 | MC2R | c.747C>A (p.Pro249=) | |
| 18 | g.13884773G>A | CA401994113 | MC2R | c.746C>T (p.Pro249Leu) | |
| 18 | g.13884773G>C | CA401994108 | MC2R | c.746C>G (p.Pro249Arg) | |
| 18 | g.13884773G>T | CA401994110 | MC2R | c.746C>A (p.Pro249His) | |
| 18 | g.13884774G>A | CA401994115 | MC2R | c.745C>T (p.Pro249Ser) | gnomAD v4 |
| 18 | g.13884774G>C | CA8902412 | MC2R | c.745C>G (p.Pro249Ala) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884774G= | CA2285919266 | MC2R | c.745C= (p.Pro249=) | |
| 18 | g.13884774G>T | CA401994118 | MC2R | c.745C>A (p.Pro249Thr) | |
| 18 | g.13884775G>A | CA503248055 | MC2R | c.744C>T (p.Asn248=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884775G>C | CA401994121 | MC2R | c.744C>G (p.Asn248Lys) | |
| 18 | g.13884775G= | CA2285919267 | MC2R | c.744C= (p.Asn248=) | |
| 18 | g.13884775G>T | CA8902413 | MC2R | c.744C>A (p.Asn248Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884776T>A | CA401994124 | MC2R | c.743A>T (p.Asn248Ile) | |
| 18 | g.13884776T>C | CA401994126 | MC2R | c.743A>G (p.Asn248Ser) | |
| 18 | g.13884776T>G | CA401994128 | MC2R | c.743A>C (p.Asn248Thr) | |
| 18 | g.13884777T>A | CA401994131 | MC2R | c.742A>T (p.Asn248Tyr) | |
| 18 | g.13884777T>C | CA401994133 | MC2R | c.742A>G (p.Asn248Asp) | dbSNP |
| 18 | g.13884777T>G | CA401994134 | MC2R | c.742A>C (p.Asn248His) | |
| 18 | g.13884777T= | CA2285919268 | MC2R | c.742A= (p.Asn248=) | |
| 18 | g.13884778_13884780del | CA2641150774 | MC2R | c.740_742del (p.Ser247del) | gnomAD v4 |
| 18 | g.13884778A>C | CA401994138 | MC2R | c.741T>G (p.Ser247Arg) | |
| 18 | g.13884778A>G | CA503248062 | MC2R | c.741T>C (p.Ser247=) | |
| 18 | g.13884778A>T | CA401994139 | MC2R | c.741T>A (p.Ser247Arg) | |
| 18 | g.13884779del | CA2641150775 | MC2R | c.740del (p.Ser247IlefsTer14) | gnomAD v4 |
| 18 | g.13884779C>A | CA401994144 | MC2R | c.740G>T (p.Ser247Ile) | |
| 18 | g.13884779C>G | CA401994142 | MC2R | c.740G>C (p.Ser247Thr) | |
| 18 | g.13884779C>T | CA401994143 | MC2R | c.740G>A (p.Ser247Asn) | |
| 18 | g.13884780T>A | CA401994147 | MC2R | c.739A>T (p.Ser247Cys) | gnomAD v4 |
| 18 | g.13884780T>C | CA401994149 | MC2R | c.739A>G (p.Ser247Gly) | |
| 18 | g.13884780T>G | CA401994150 | MC2R | c.739A>C (p.Ser247Arg) | |
| 18 | g.13884781T>A | CA503248068 | MC2R | c.738A>T (p.Pro246=) | |
| 18 | g.13884781T>C | CA503248069 | MC2R | c.738A>G (p.Pro246=) | |
| 18 | g.13884781T>G | CA503248073 | MC2R | c.738A>C (p.Pro246=) | |
| 18 | g.13884782G>A | CA401994153 | MC2R | c.737C>T (p.Pro246Leu) | |
| 18 | g.13884782G>C | CA401994155 | MC2R | c.737C>G (p.Pro246Arg) | |
| 18 | g.13884782G>T | CA401994157 | MC2R | c.737C>A (p.Pro246Gln) | |
| 18 | g.13884783G>A | CA401994163 | MC2R | c.736C>T (p.Pro246Ser) | |
| 18 | g.13884783G>C | CA401994159 | MC2R | c.736C>G (p.Pro246Ala) | |
| 18 | g.13884783G>T | CA401994161 | MC2R | c.736C>A (p.Pro246Thr) | |
| 18 | g.13884784G>A | CA503248077 | MC2R | c.735C>T (p.Cys245=) | |
| 18 | g.13884784G>C | CA401994165 | MC2R | c.735C>G (p.Cys245Trp) | |
| 18 | g.13884784G>T | CA401994166 | MC2R | c.735C>A (p.Cys245Ter) | COSMIC |
| 18 | g.13884785C>A | CA401994169 | MC2R | c.734G>T (p.Cys245Phe) | |
| 18 | g.13884785C>G | CA401994171 | MC2R | c.734G>C (p.Cys245Ser) | |
| 18 | g.13884785C>T | CA401994173 | MC2R | c.734G>A (p.Cys245Tyr) | gnomAD v4 |
| 18 | g.13884786A>C | CA401994175 | MC2R | c.733T>G (p.Cys245Gly) | |
| 18 | g.13884786A>G | CA401994178 | MC2R | c.733T>C (p.Cys245Arg) | |
| 18 | g.13884786A>T | CA401994176 | MC2R | c.733T>A (p.Cys245Ser) | |
| 18 | g.13884787G>A | CA503248084 | MC2R | c.732C>T (p.Phe244=) | |
| 18 | g.13884787G>C | CA401994180 | MC2R | c.732C>G (p.Phe244Leu) | |
| 18 | g.13884787G>T | CA401994182 | MC2R | c.732C>A (p.Phe244Leu) | COSMIC |
| 18 | g.13884788A>C | CA401994185 | MC2R | c.731T>G (p.Phe244Cys) | |
| 18 | g.13884788A>G | CA401994186 | MC2R | c.731T>C (p.Phe244Ser) | |
| 18 | g.13884788A>T | CA401994188 | MC2R | c.731T>A (p.Phe244Tyr) | |
| 18 | g.13884789A>C | CA401994190 | MC2R | c.730T>G (p.Phe244Val) | |
| 18 | g.13884789A>G | CA401994191 | MC2R | c.730T>C (p.Phe244Leu) | |
| 18 | g.13884789A>T | CA401994193 | MC2R | c.730T>A (p.Phe244Ile) | |
| 18 | g.13884790T>A | CA503248089 | MC2R | c.729A>T (p.Thr243=) | |
| 18 | g.13884790T>C | CA503248088 | MC2R | c.729A>G (p.Thr243=) | dbSNP |
| 18 | g.13884790T>G | CA503248087 | MC2R | c.729A>C (p.Thr243=) | |
| 18 | g.13884790T= | CA2285919269 | MC2R | c.729A= (p.Thr243=) | |
| 18 | g.13884791G>A | CA401994196 | MC2R | c.728C>T (p.Thr243Ile) | dbSNP gnomAD v2 |
| 18 | g.13884791G>C | CA401994198 | MC2R | c.728C>G (p.Thr243Arg) | |
| 18 | g.13884791G= | CA2285919270 | MC2R | c.728C= (p.Thr243=) | |
| 18 | g.13884791G>T | CA296828625 | MC2R | c.728C>A (p.Thr243Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884792T>A | CA401994201 | MC2R | c.727A>T (p.Thr243Ser) | |
| 18 | g.13884792T>C | CA401994205 | MC2R | c.727A>G (p.Thr243Ala) | |
| 18 | g.13884792T>G | CA401994203 | MC2R | c.727A>C (p.Thr243Pro) | |
| 18 | g.13884795_13884797del | CA2641150776 | MC2R | c.725_727del (p.Met242del) | gnomAD v4 |
| 18 | g.13884793C>A | CA401994207 | MC2R | c.726G>T (p.Met242Ile) | |
| 18 | g.13884793C>G | CA401994211 | MC2R | c.726G>C (p.Met242Ile) | gnomAD v4 |
| 18 | g.13884793C>T | CA401994209 | MC2R | c.726G>A (p.Met242Ile) | COSMIC |
| 18 | g.13884794A>C | CA401994212 | MC2R | c.725T>G (p.Met242Arg) | |
| 18 | g.13884794A>G | CA401994214 | MC2R | c.725T>C (p.Met242Thr) | gnomAD v4 |
| 18 | g.13884794A>T | CA401994216 | MC2R | c.725T>A (p.Met242Lys) | |
| 18 | g.13884795T>A | CA401994218 | MC2R | c.724A>T (p.Met242Leu) | gnomAD v4 |
| 18 | g.13884795T>C | CA8902414 | MC2R | c.724A>G (p.Met242Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884795T>G | CA401994221 | MC2R | c.724A>C (p.Met242Leu) | |
| 18 | g.13884795T= | CA2285919271 | MC2R | c.724A= (p.Met242=) | |
| 18 | g.13884796C>A | CA401994222 | MC2R | c.723G>T (p.Leu241Phe) | |
| 18 | g.13884796C= | CA2285919272 | MC2R | c.723G= (p.Leu241=) | |
| 18 | g.13884796C>G | CA401994224 | MC2R | c.723G>C (p.Leu241Phe) | dbSNP |
| 18 | g.13884796C>T | CA503248106 | MC2R | c.723G>A (p.Leu241=) | dbSNP COSMIC |
| 18 | g.13884797A>C | CA401994226 | MC2R | c.722T>G (p.Leu241Trp) | |
| 18 | g.13884797A>G | CA401994228 | MC2R | c.722T>C (p.Leu241Ser) | |
| 18 | g.13884797A>T | CA401994230 | MC2R | c.722T>A (p.Leu241Ter) | |
| 18 | g.13884798A= | CA2285919273 | MC2R | c.721T= (p.Leu241=) | |
| 18 | g.13884798A>C | CA401994234 | MC2R | c.721T>G (p.Leu241Val) | |
| 18 | g.13884798A>G | CA503248107 | MC2R | c.721T>C (p.Leu241=) | dbSNP COSMIC |
| 18 | g.13884798A>T | CA401994232 | MC2R | c.721T>A (p.Leu241Met) | |
| 18 | g.13884799G>A | CA503248109 | MC2R | c.720C>T (p.Leu240=) | |
| 18 | g.13884799G>C | CA503248110 | MC2R | c.720C>G (p.Leu240=) | |
| 18 | g.13884799G>T | CA503248112 | MC2R | c.720C>A (p.Leu240=) | gnomAD v4 |
| 18 | g.13884800A>C | CA401994237 | MC2R | c.719T>G (p.Leu240Arg) | |
| 18 | g.13884800A>G | CA401994239 | MC2R | c.719T>C (p.Leu240Pro) | |
| 18 | g.13884800A>T | CA401994241 | MC2R | c.719T>A (p.Leu240His) | |
| 18 | g.13884801G>A | CA8902415 | MC2R | c.718C>T (p.Leu240Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884801G>C | CA401994244 | MC2R | c.718C>G (p.Leu240Val) | |
| 18 | g.13884801G= | CA2285919274 | MC2R | c.718C= (p.Leu240=) | |
| 18 | g.13884801G>T | CA401994246 | MC2R | c.718C>A (p.Leu240Ile) | |
| 18 | g.13884802G>A | CA503248121 | MC2R | c.717C>T (p.Val239=) | dbSNP gnomAD v4 |
| 18 | g.13884802G>C | CA503248122 | MC2R | c.717C>G (p.Val239=) | |
| 18 | g.13884802G= | CA2285919275 | MC2R | c.717C= (p.Val239=) | |
| 18 | g.13884802G>T | CA503248123 | MC2R | c.717C>A (p.Val239=) | |
| 18 | g.13884803A>C | CA401994249 | MC2R | c.716T>G (p.Val239Gly) | |
| 18 | g.13884803A>G | CA401994250 | MC2R | c.716T>C (p.Val239Ala) | gnomAD v4 |
| 18 | g.13884803A>T | CA401994252 | MC2R | c.716T>A (p.Val239Asp) | |
| 18 | g.13884804C>A | CA401994254 | MC2R | c.715G>T (p.Val239Phe) | gnomAD v4 |
| 18 | g.13884804C= | CA2285919276 | MC2R | c.715G= (p.Val239=) | |
| 18 | g.13884804C>G | CA401994256 | MC2R | c.715G>C (p.Val239Leu) | |
| 18 | g.13884804C>T | CA8902416 | MC2R | c.715G>A (p.Val239Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884805A= | CA2285919277 | MC2R | c.714T= (p.His238=) | |
| 18 | g.13884805A>C | CA401994261 | MC2R | c.714T>G (p.His238Gln) | COSMIC |
| 18 | g.13884805A>G | CA503248125 | MC2R | c.714T>C (p.His238=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884805A>T | CA401994260 | MC2R | c.714T>A (p.His238Gln) | |
| 18 | g.13884806T>A | CA401994264 | MC2R | c.713A>T (p.His238Leu) | |
| 18 | g.13884806T>C | CA401994266 | MC2R | c.713A>G (p.His238Arg) | |
| 18 | g.13884806T>G | CA401994267 | MC2R | c.713A>C (p.His238Pro) | |
| 18 | g.13884807G>A | CA401994270 | MC2R | c.712C>T (p.His238Tyr) | dbSNP COSMIC |
| 18 | g.13884807G>C | CA401994272 | MC2R | c.712C>G (p.His238Asp) | |
| 18 | g.13884807G= | CA2285919278 | MC2R | c.712C= (p.His238=) | |
| 18 | g.13884807G>T | CA401994273 | MC2R | c.712C>A (p.His238Asn) | |
| 18 | g.13884808A= | CA2285919279 | MC2R | c.711T= (p.Leu237=) | |
| 18 | g.13884808A>C | CA8902417 | MC2R | c.711T>G (p.Leu237=) | dbSNP ExAC |
| 18 | g.13884808A>G | CA503248130 | MC2R | c.711T>C (p.Leu237=) | |
| 18 | g.13884808A>T | CA503248131 | MC2R | c.711T>A (p.Leu237=) | |
| 18 | g.13884809A>C | CA401994277 | MC2R | c.710T>G (p.Leu237Arg) | |
| 18 | g.13884809A>G | CA401994279 | MC2R | c.710T>C (p.Leu237Pro) | gnomAD v4 |
| 18 | g.13884809A>T | CA401994281 | MC2R | c.710T>A (p.Leu237His) | |
| 18 | g.13884810G>A | CA401994283 | MC2R | c.709C>T (p.Leu237Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884810G>C | CA401994284 | MC2R | c.709C>G (p.Leu237Val) | |
| 18 | g.13884810G= | CA2285919280 | MC2R | c.709C= (p.Leu237=) | |
| 18 | g.13884810G>T | CA401994286 | MC2R | c.709C>A (p.Leu237Ile) | |
| 18 | g.13884811C>A | CA503248132 | MC2R | c.708G>T (p.Val236=) | |
| 18 | g.13884811C>G | CA503248134 | MC2R | c.708G>C (p.Val236=) | dbSNP gnomAD v4 |
| 18 | g.13884811C>T | CA503248136 | MC2R | c.708G>A (p.Val236=) | |
| 18 | g.13884812A>C | CA401994290 | MC2R | c.707T>G (p.Val236Gly) | |
| 18 | g.13884812A>G | CA401994288 | MC2R | c.707T>C (p.Val236Ala) | |
| 18 | g.13884812A>T | CA401994289 | MC2R | c.707T>A (p.Val236Glu) | |
| 18 | g.13884813C>A | CA401994292 | MC2R | c.706G>T (p.Val236Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884813C= | CA2285919281 | MC2R | c.706G= (p.Val236=) | |
| 18 | g.13884813C>G | CA401994294 | MC2R | c.706G>C (p.Val236Leu) | |
| 18 | g.13884813C>T | CA401994295 | MC2R | c.706G>A (p.Val236Met) | gnomAD v4 |
| 18 | g.13884814A= | CA2285919282 | MC2R | c.705T= (p.Phe235=) | |
| 18 | g.13884814A>C | CA401994298 | MC2R | c.705T>G (p.Phe235Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884814A>G | CA503248144 | MC2R | c.705T>C (p.Phe235=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884814A>T | CA401994300 | MC2R | c.705T>A (p.Phe235Leu) | |
| 18 | g.13884815A>C | CA401994302 | MC2R | c.704T>G (p.Phe235Cys) | |
| 18 | g.13884815A>G | CA401994304 | MC2R | c.704T>C (p.Phe235Ser) | |
| 18 | g.13884815A>T | CA401994306 | MC2R | c.704T>A (p.Phe235Tyr) | |
| 18 | g.13884816A>C | CA401994309 | MC2R | c.703T>G (p.Phe235Val) | |
| 18 | g.13884816A>G | CA401994311 | MC2R | c.703T>C (p.Phe235Leu) | |
| 18 | g.13884816A>T | CA401994313 | MC2R | c.703T>A (p.Phe235Ile) | |
| 18 | g.13884816_13884817delinsAG | CA2285919283 | MC2R | c.702_703delinsCT (p.Pro234=) | |
| 18 | g.13884817G>A | CA503248156 | MC2R | c.702C>T (p.Pro234=) | gnomAD v4 |
| 18 | g.13884817G>C | CA503248153 | MC2R | c.702C>G (p.Pro234=) | |
| 18 | g.13884817G>T | CA503248151 | MC2R | c.702C>A (p.Pro234=) | |
| 18 | g.13884821dup | CA2811045715 | MC2R | c.702dup (p.Phe235LeufsTer14) | |
| 18 | g.13884821del | CA658653848 | MC2R | c.702del (p.Phe235LeufsTer7) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884818G>A | CA401994319 | MC2R | c.701C>T (p.Pro234Leu) | |
| 18 | g.13884818G>C | CA401994317 | MC2R | c.701C>G (p.Pro234Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884818G= | CA2285919284 | MC2R | c.701C= (p.Pro234=) | |
| 18 | g.13884818G>T | CA401994315 | MC2R | c.701C>A (p.Pro234His) | gnomAD v4 |
| 18 | g.13884819G>A | CA401994321 | MC2R | c.700C>T (p.Pro234Ser) | gnomAD v4 |
| 18 | g.13884819G>C | CA401994323 | MC2R | c.700C>G (p.Pro234Ala) | gnomAD v4 |
| 18 | g.13884819G>T | CA401994325 | MC2R | c.700C>A (p.Pro234Thr) | |
| 18 | g.13884820G>A | CA503248160 | MC2R | c.699C>T (p.Ala233=) | gnomAD v4 |
| 18 | g.13884820G>C | CA503248164 | MC2R | c.699C>G (p.Ala233=) | |
| 18 | g.13884820G>T | CA503248165 | MC2R | c.699C>A (p.Ala233=) | COSMIC |
| 18 | g.13884821G>A | CA8902418 | MC2R | c.698C>T (p.Ala233Val) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 18 | g.13884821G>C | CA401994328 | MC2R | c.698C>G (p.Ala233Gly) | dbSNP gnomAD v4 |
| 18 | g.13884821G= | CA2285919285 | MC2R | c.698C= (p.Ala233=) | |
| 18 | g.13884821G>T | CA401994330 | MC2R | c.698C>A (p.Ala233Asp) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884822C>A | CA401994334 | MC2R | c.697G>T (p.Ala233Ser) | |
| 18 | g.13884822C= | CA2285919286 | MC2R | c.697G= (p.Ala233=) | |
| 18 | g.13884822C>G | CA401994332 | MC2R | c.697G>C (p.Ala233Pro) | dbSNP gnomAD v2 |
| 18 | g.13884822C>T | CA8902419 | MC2R | c.697G>A (p.Ala233Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884823C>A | CA401994337 | MC2R | c.696G>T (p.Trp232Cys) | gnomAD v4 |
| 18 | g.13884823C>G | CA401994339 | MC2R | c.696G>C (p.Trp232Cys) | |
| 18 | g.13884823C>T | CA401994340 | MC2R | c.696G>A (p.Trp232Ter) | |
| 18 | g.13884824C>A | CA401994344 | MC2R | c.695G>T (p.Trp232Leu) | |
| 18 | g.13884824C>G | CA401994345 | MC2R | c.695G>C (p.Trp232Ser) | |
| 18 | g.13884824C>T | CA401994346 | MC2R | c.695G>A (p.Trp232Ter) | |
| 18 | g.13884825A>C | CA401994351 | MC2R | c.694T>G (p.Trp232Gly) | |
| 18 | g.13884825A>G | CA401994348 | MC2R | c.694T>C (p.Trp232Arg) | |
| 18 | g.13884825A>T | CA401994350 | MC2R | c.694T>A (p.Trp232Arg) | |
| 18 | g.13884826G>A | CA503248182 | MC2R | c.693C>T (p.Cys231=) | gnomAD v4 |
| 18 | g.13884826G>C | CA401994354 | MC2R | c.693C>G (p.Cys231Trp) | |
| 18 | g.13884826G>T | CA401994356 | MC2R | c.693C>A (p.Cys231Ter) | |
| 18 | g.13884827C>A | CA401994359 | MC2R | c.692G>T (p.Cys231Phe) | |
| 18 | g.13884827C>G | CA401994360 | MC2R | c.692G>C (p.Cys231Ser) | gnomAD v4 |
| 18 | g.13884827C>T | CA401994362 | MC2R | c.692G>A (p.Cys231Tyr) | |
| 18 | g.13884828A>C | CA401994364 | MC2R | c.691T>G (p.Cys231Gly) | |
| 18 | g.13884828A>G | CA401994365 | MC2R | c.691T>C (p.Cys231Arg) | |
| 18 | g.13884828A>T | CA401994366 | MC2R | c.691T>A (p.Cys231Ser) | |
| 18 | g.13884829G>A | CA503248190 | MC2R | c.690C>T (p.Phe230=) | COSMIC |
| 18 | g.13884829G>C | CA401994369 | MC2R | c.690C>G (p.Phe230Leu) | |
| 18 | g.13884829G>T | CA401994370 | MC2R | c.690C>A (p.Phe230Leu) | |
| 18 | g.13884830A= | CA2285919287 | MC2R | c.689T= (p.Phe230=) | |
| 18 | g.13884830A>C | CA401994372 | MC2R | c.689T>G (p.Phe230Cys) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884830A>G | CA401994374 | MC2R | c.689T>C (p.Phe230Ser) | |
| 18 | g.13884830A>T | CA401994376 | MC2R | c.689T>A (p.Phe230Tyr) | |
| 18 | g.13884831A>C | CA401994378 | MC2R | c.688T>G (p.Phe230Val) | |
| 18 | g.13884831A>G | CA401994382 | MC2R | c.688T>C (p.Phe230Leu) | |
| 18 | g.13884831A>T | CA401994380 | MC2R | c.688T>A (p.Phe230Ile) | |
| 18 | g.13884832_13884839dup | CA628623250 | MC2R | c.681_688dup (p.Phe230SerfsTer15) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884832G>A | CA296828643 | MC2R | c.687C>T (p.Ile229=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884832G>C | CA401994385 | MC2R | c.687C>G (p.Ile229Met) | |
| 18 | g.13884832G= | CA2285919288 | MC2R | c.687C= (p.Ile229=) | |
| 18 | g.13884832G>T | CA503248195 | MC2R | c.687C>A (p.Ile229=) | |
| 18 | g.13884833A= | CA2285919289 | MC2R | c.686T= (p.Ile229=) | |
| 18 | g.13884833A>C | CA401994387 | MC2R | c.686T>G (p.Ile229Ser) | |
| 18 | g.13884833A>G | CA8902420 | MC2R | c.686T>C (p.Ile229Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884833A>T | CA401994391 | MC2R | c.686T>A (p.Ile229Asn) | |
| 18 | g.13884834T>A | CA401994393 | MC2R | c.685A>T (p.Ile229Phe) | |
| 18 | g.13884834T>C | CA401994395 | MC2R | c.685A>G (p.Ile229Val) | |
| 18 | g.13884834T>G | CA401994397 | MC2R | c.685A>C (p.Ile229Leu) | gnomAD v4 |
| 18 | g.13884835G>A | CA503248201 | MC2R | c.684C>T (p.Phe228=) | |
| 18 | g.13884835G>C | CA401994399 | MC2R | c.684C>G (p.Phe228Leu) | |
| 18 | g.13884835G>T | CA401994401 | MC2R | c.684C>A (p.Phe228Leu) | |
| 18 | g.13884836A>C | CA401994404 | MC2R | c.683T>G (p.Phe228Cys) | |
| 18 | g.13884836A>G | CA401994406 | MC2R | c.683T>C (p.Phe228Ser) | |
| 18 | g.13884836A>T | CA401994407 | MC2R | c.683T>A (p.Phe228Tyr) | |
| 18 | g.13884837A>C | CA401994412 | MC2R | c.682T>G (p.Phe228Val) | |
| 18 | g.13884837A>G | CA401994410 | MC2R | c.682T>C (p.Phe228Leu) | |
| 18 | g.13884837A>T | CA401994409 | MC2R | c.682T>A (p.Phe228Ile) | |
| 18 | g.13884838G>A | CA503248209 | MC2R | c.681C>T (p.Val227=) | |
| 18 | g.13884838G>C | CA503248207 | MC2R | c.681C>G (p.Val227=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884838G= | CA2285919290 | MC2R | c.681C= (p.Val227=) | |
| 18 | g.13884838G>T | CA503248208 | MC2R | c.681C>A (p.Val227=) | |
| 18 | g.13884839A>C | CA401994415 | MC2R | c.680T>G (p.Val227Gly) | |
| 18 | g.13884839A>G | CA401994417 | MC2R | c.680T>C (p.Val227Ala) | |
| 18 | g.13884839A>T | CA401994418 | MC2R | c.680T>A (p.Val227Asp) | |
| 18 | g.13884840C>A | CA8902421 | MC2R | c.679G>T (p.Val227Phe) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884840C= | CA2285919291 | MC2R | c.679G= (p.Val227=) | |
| 18 | g.13884840C>G | CA8902422 | MC2R | c.679G>C (p.Val227Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884840C>T | CA401994423 | MC2R | c.679G>A (p.Val227Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884841C>A | CA503248211 | MC2R | c.678G>T (p.Gly226=) | |
| 18 | g.13884841C= | CA2285919292 | MC2R | c.678G= (p.Gly226=) | |
| 18 | g.13884841C>G | CA503248212 | MC2R | c.678G>C (p.Gly226=) | dbSNP gnomAD v4 |
| 18 | g.13884841C>T | CA503248214 | MC2R | c.678G>A (p.Gly226=) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884842C>A | CA401994425 | MC2R | c.677G>T (p.Gly226Val) | COSMIC |
| 18 | g.13884842C>G | CA401994427 | MC2R | c.677G>C (p.Gly226Ala) | |
| 18 | g.13884842C>T | CA401994428 | MC2R | c.677G>A (p.Gly226Glu) | |
| 18 | g.13884843C>A | CA401994430 | MC2R | c.676G>T (p.Gly226Trp) | |
| 18 | g.13884843C= | CA2285919293 | MC2R | c.676G= (p.Gly226=) | |
| 18 | g.13884843C>G | CA401994431 | MC2R | c.676G>C (p.Gly226Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884843C>T | CA8902423 | MC2R | c.676G>A (p.Gly226Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884844G>A | CA503248220 | MC2R | c.675C>T (p.Leu225=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884844G>C | CA503248219 | MC2R | c.675C>G (p.Leu225=) | |
| 18 | g.13884844G= | CA2285919294 | MC2R | c.675C= (p.Leu225=) | |
| 18 | g.13884844G>T | CA503248222 | MC2R | c.675C>A (p.Leu225=) | gnomAD v4 |
| 18 | g.13884845A= | CA2285919295 | MC2R | c.674T= (p.Leu225=) | |
| 18 | g.13884845A>C | CA401994434 | MC2R | c.674T>G (p.Leu225Arg) | ClinVar dbSNP |
| 18 | g.13884845A>G | CA401994437 | MC2R | c.674T>C (p.Leu225Pro) | |
| 18 | g.13884845A>T | CA401994435 | MC2R | c.674T>A (p.Leu225His) | |
| 18 | g.13884846G>A | CA401994440 | MC2R | c.673C>T (p.Leu225Phe) | gnomAD v4 |
| 18 | g.13884846G>C | CA401994444 | MC2R | c.673C>G (p.Leu225Val) | |
| 18 | g.13884846G>T | CA401994442 | MC2R | c.673C>A (p.Leu225Ile) | |
| 18 | g.13884847C>A | CA503248226 | MC2R | c.672G>T (p.Leu224=) | gnomAD v4 |
| 18 | g.13884847C>G | CA503248227 | MC2R | c.672G>C (p.Leu224=) | |
| 18 | g.13884847C>T | CA503248228 | MC2R | c.672G>A (p.Leu224=) | |
| 18 | g.13884848A= | CA2285919296 | MC2R | c.671T= (p.Leu224=) | |
| 18 | g.13884848A>C | CA401994446 | MC2R | c.671T>G (p.Leu224Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884848A>G | CA401994448 | MC2R | c.671T>C (p.Leu224Pro) | |
| 18 | g.13884848A>T | CA401994450 | MC2R | c.671T>A (p.Leu224Gln) | COSMIC |
| 18 | g.13884849G>A | CA503248230 | MC2R | c.670C>T (p.Leu224=) | |
| 18 | g.13884849G>C | CA401994452 | MC2R | c.670C>G (p.Leu224Val) | |
| 18 | g.13884849G>T | CA401994454 | MC2R | c.670C>A (p.Leu224Met) | COSMIC |
| 18 | g.13884850G>A | CA503248233 | MC2R | c.669C>T (p.Ile223=) | |
| 18 | g.13884850G>C | CA401994456 | MC2R | c.669C>G (p.Ile223Met) | |
| 18 | g.13884850G>T | CA503248235 | MC2R | c.669C>A (p.Ile223=) | |
| 18 | g.13884851A>C | CA401994459 | MC2R | c.668T>G (p.Ile223Ser) | |
| 18 | g.13884851A>G | CA401994460 | MC2R | c.668T>C (p.Ile223Thr) | |
| 18 | g.13884851A>T | CA401994461 | MC2R | c.668T>A (p.Ile223Asn) | |
| 18 | g.13884852T>A | CA401994465 | MC2R | c.667A>T (p.Ile223Phe) | |
| 18 | g.13884852T>C | CA401994466 | MC2R | c.667A>G (p.Ile223Val) | |
| 18 | g.13884852T>G | CA401994467 | MC2R | c.667A>C (p.Ile223Leu) | |
| 18 | g.13884853G>A | CA503248238 | MC2R | c.666C>T (p.Thr222=) | |
| 18 | g.13884853G>C | CA503248240 | MC2R | c.666C>G (p.Thr222=) | ClinVar dbSNP |
| 18 | g.13884853G= | CA2285919297 | MC2R | c.666C= (p.Thr222=) | |
| 18 | g.13884853G>T | CA503248243 | MC2R | c.666C>A (p.Thr222=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884854G>A | CA401994469 | MC2R | c.665C>T (p.Thr222Ile) | gnomAD v4 |
| 18 | g.13884854G>C | CA401994473 | MC2R | c.665C>G (p.Thr222Ser) | |
| 18 | g.13884854G= | CA2285919298 | MC2R | c.665C= (p.Thr222=) | |
| 18 | g.13884854G>T | CA401994471 | MC2R | c.665C>A (p.Thr222Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884855T>A | CA401994475 | MC2R | c.664A>T (p.Thr222Ser) | |
| 18 | g.13884855T>C | CA401994477 | MC2R | c.664A>G (p.Thr222Ala) | |
| 18 | g.13884855T>G | CA401994479 | MC2R | c.664A>C (p.Thr222Pro) | |
| 18 | g.13884856C>A | CA503248246 | MC2R | c.663G>T (p.Leu221=) | |
| 18 | g.13884856C= | CA2285919299 | MC2R | c.663G= (p.Leu221=) | |
| 18 | g.13884856C>G | CA503248248 | MC2R | c.663G>C (p.Leu221=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884856C>T | CA503248250 | MC2R | c.663G>A (p.Leu221=) | |
| 18 | g.13884857A>C | CA401994481 | MC2R | c.662T>G (p.Leu221Arg) | |
| 18 | g.13884857A>G | CA401994483 | MC2R | c.662T>C (p.Leu221Pro) | |
| 18 | g.13884857A>T | CA401994485 | MC2R | c.662T>A (p.Leu221Gln) | |
| 18 | g.13884858G>A | CA8902424 | MC2R | c.661C>T (p.Leu221=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884858G>C | CA401994488 | MC2R | c.661C>G (p.Leu221Val) | |
| 18 | g.13884858G= | CA2285919300 | MC2R | c.661C= (p.Leu221=) | |
| 18 | g.13884858G>T | CA401994490 | MC2R | c.661C>A (p.Leu221Met) | |
| 18 | g.13884859T>A | CA503248257 | MC2R | c.660A>T (p.Thr220=) | |
| 18 | g.13884859T>C | CA503248255 | MC2R | c.660A>G (p.Thr220=) | |
| 18 | g.13884859T>G | CA503248253 | MC2R | c.660A>C (p.Thr220=) | |
| 18 | g.13884860G>A | CA401994495 | MC2R | c.659C>T (p.Thr220Ile) | gnomAD v4 COSMIC |
| 18 | g.13884860G>C | CA401994497 | MC2R | c.659C>G (p.Thr220Arg) | |
| 18 | g.13884860G>T | CA401994493 | MC2R | c.659C>A (p.Thr220Lys) | |
| 18 | g.13884860_13884863delinsGTGA | CA2285919301 | MC2R | c.656_659delinsTCAC (p.Ile219=) | |
| 18 | g.13884861T>A | CA401994500 | MC2R | c.658A>T (p.Thr220Ser) | |
| 18 | g.13884861T>C | CA401994502 | MC2R | c.658A>G (p.Thr220Ala) | |
| 18 | g.13884861T>G | CA401994503 | MC2R | c.658A>C (p.Thr220Pro) | |
| 18 | g.13884863_13884865del | CA8902425 | MC2R | c.656_658del (p.Ile219del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884862G>A | CA503248265 | MC2R | c.657C>T (p.Ile219=) | |
| 18 | g.13884862G>C | CA8902426 | MC2R | c.657C>G (p.Ile219Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 18 | g.13884862G= | CA2285919302 | MC2R | c.657C= (p.Ile219=) | |
| 18 | g.13884862G>T | CA503248268 | MC2R | c.657C>A (p.Ile219=) | gnomAD v4 |
| 18 | g.13884863A= | CA2285919303 | MC2R | c.656T= (p.Ile219=) | |
| 18 | g.13884863A>C | CA401994510 | MC2R | c.656T>G (p.Ile219Ser) | |
| 18 | g.13884863A>G | CA8902427 | MC2R | c.656T>C (p.Ile219Thr) | dbSNP ExAC gnomAD v4 |
| 18 | g.13884863A>T | CA401994507 | MC2R | c.656T>A (p.Ile219Asn) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884863_13884878delinsATGGCCCCTTTCATGT | CA2285919304 | MC2R | c.641_656delinsACATGAAAGGGGCCAT (p.Asn214=) | |
| 18 | g.13884864T>A | CA401994513 | MC2R | c.655A>T (p.Ile219Phe) | |
| 18 | g.13884864T>C | CA401994514 | MC2R | c.655A>G (p.Ile219Val) | |
| 18 | g.13884864T>G | CA401994516 | MC2R | c.655A>C (p.Ile219Leu) | |
| 18 | g.13884868_13884882del | CA628623261 | MC2R | c.641_655del (p.Asn214_Ala218del) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884865G>A | CA503248272 | MC2R | c.654C>T (p.Ala218=) | |
| 18 | g.13884865G>C | CA503248275 | MC2R | c.654C>G (p.Ala218=) | dbSNP gnomAD v3 gnomAD v4 |
| 18 | g.13884865G= | CA2285919305 | MC2R | c.654C= (p.Ala218=) | |
| 18 | g.13884865G>T | CA503248273 | MC2R | c.654C>A (p.Ala218=) | |
| 18 | g.13884866G>A | CA401994518 | MC2R | c.653C>T (p.Ala218Val) | |
| 18 | g.13884866G>C | CA401994521 | MC2R | c.653C>G (p.Ala218Gly) | |
| 18 | g.13884866G= | CA2285919306 | MC2R | c.653C= (p.Ala218=) | |
| 18 | g.13884866G>T | CA401994522 | MC2R | c.653C>A (p.Ala218Asp) | |
| 18 | g.13884866_13884867insT | CA8902428 | MC2R | c.652_653insA (p.Ala218AspfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 18 | g.13884867C>A | CA401994530 | MC2R | c.652G>T (p.Ala218Ser) | |
| 18 | g.13884867C>G | CA401994528 | MC2R | c.652G>C (p.Ala218Pro) | |
| 18 | g.13884867C>T | CA401994526 | MC2R | c.652G>A (p.Ala218Thr) | |
| 18 | g.13884868C>A | CA503248285 | MC2R | c.651G>T (p.Gly217=) | COSMIC |
| 18 | g.13884868C>G | CA503248281 | MC2R | c.651G>C (p.Gly217=) | gnomAD v4 |
| 18 | g.13884868C>T | CA503248283 | MC2R | c.651G>A (p.Gly217=) | gnomAD v4 |
| 18 | g.13884869C>A | CA401994533 | MC2R | c.650G>T (p.Gly217Val) | |
| 18 | g.13884869C>G | CA401994534 | MC2R | c.650G>C (p.Gly217Ala) | gnomAD v4 |
| 18 | g.13884869C>T | CA401994536 | MC2R | c.650G>A (p.Gly217Glu) | COSMIC |
| 18 | g.13884870C>A | CA401994539 | MC2R | c.649G>T (p.Gly217Trp) | gnomAD v4 |
| 18 | g.13884870C= | CA2285919307 | MC2R | c.649G= (p.Gly217=) | |
| 18 | g.13884870C>G | CA401994541 | MC2R | c.649G>C (p.Gly217Arg) | |
| 18 | g.13884870C>T | CA296828664 | MC2R | c.649G>A (p.Gly217Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 18 | g.13884870_13884871del | CA2641150777 | MC2R | c.648_649del (p.Ala218HisfsTer?) | gnomAD v4 |